Chen, 2015: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
22
|
No
|
Dysarthria
-Motor Axial hypotonia Facial twitches Myoclonus Cerebellar signs Dyskinesia Chorea Motor delay Paroxysmal dyskinesia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
9
|
No
|
Dyskinesia
Axial hypotonia Myoclonus Dysarthria Gait impairment Motor delay Seizures -Motor Hyperreflexia Delayed gross motor development Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
5
|
42
|
Yes
|
Tremor (any or unspecified)
Trigger: Anxiety -Motor Postural tremor Dyskinesia Chorea Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
No
|
Dysarthria
Dyskinesia -Motor Cerebellar signs Myoclonus Chorea Axial hypotonia Cognitive impairment Facial twitches Hyperreflexia Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
29
|
No
|
n.a.
|
||
No
|
♀
|
C
|
USA
|
3
|
71
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
8
|
Yes
|
Gait impairment
-Motor Motor delay Axial hypotonia Dystonia, axial Dyskinesia Muscular hypotonia Dystonia, limb Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
68
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
13
|
No
|
n.a.
|